This Panel is marked as Retired
Epileptic encephalopathy
Gene: CLN8
CLN8 (CLN8, transmembrane ER and ERGIC protein)
EnsemblGeneIds (GRCh38): ENSG00000182372
EnsemblGeneIds (GRCh37): ENSG00000182372
OMIM: 607837, Gene2Phenotype
CLN8 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000182372
EnsemblGeneIds (GRCh37): ENSG00000182372
OMIM: 607837, Gene2Phenotype
CLN8 is in 13 panels
4 reviews
Amy McTague (UCL Institute of Child Health)
Natalie Trump (NHS - Great Ormond Street Hospital)
Manju Kurian (UCL-Institute of Child Health)
Richard Scott (North Thames GMC/UCL)
Details
- Sources
-
- Expert Review Red
- Expert
- OMIM
- 607837
- Clinvar variants
- Variants in CLN8
- Penetrance
- Complete
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Structural eye disease
- Retinal disorders
- Neuronal ceroid lipofuscinosis
- Intellectual disability
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hyperammonaemia
- Glaucoma (developmental)
- Lysosomal storage disorder
- Fetal anomalies
History Filter Activity
13 Nov 2015, Gel status: 1
gel status update
GEL ()The Gel status was updated for this whole panel
13 Nov 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CLN8 was added to Epileptic encephalopathypanel. Source: Expert Review Red
13 Nov 2015, Gel status: 0
gel status update
GEL ()The Gel status was updated for this whole panel
1 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CLN8 was added to Epileptic encephalopathypanel. Sources: Expert